ClinVar Miner

List of variants in gene combination CERS1, GDF1 reported as likely benign by Invitae

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 171
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001492.6(GDF1):c.55C>G (p.Leu19Val) rs370986101 0.00129
NM_021267.5(CERS1):c.16C>A (p.Pro6Thr) rs1041161328 0.00069
NM_021267.5(CERS1):c.898C>T (p.Leu300=) rs373928623 0.00035
NM_021267.5(CERS1):c.178C>T (p.Leu60=) rs760185006 0.00028
NM_021267.5(CERS1):c.393A>G (p.Pro131=) rs577485199 0.00020
NM_021267.5(CERS1):c.*626G>A rs758878687 0.00016
NM_021267.5(CERS1):c.912G>A (p.Ala304=) rs369177504 0.00016
NM_001492.6(GDF1):c.339G>T (p.Arg113=) rs775584529 0.00015
NM_001492.6(GDF1):c.468G>A (p.Ala156=) rs1374264843 0.00015
NM_021267.5(CERS1):c.300C>T (p.Pro100=) rs376834189 0.00015
NM_021267.5(CERS1):c.590+14C>T rs371448103 0.00014
NM_021267.5(CERS1):c.519C>A (p.Arg173=) rs575712132 0.00013
NM_021267.5(CERS1):c.942G>A (p.Val314=) rs373503454 0.00013
NM_021267.5(CERS1):c.174C>G (p.Pro58=) rs992534143 0.00010
NM_021267.5(CERS1):c.663C>T (p.Leu221=) rs535134210 0.00010
NM_001492.6(GDF1):c.912C>G (p.Val304=) rs551588378 0.00009
NM_021267.5(CERS1):c.549C>T (p.His183=) rs200024180 0.00009
NM_001492.6(GDF1):c.159C>T (p.Pro53=) rs755093676 0.00007
NM_021267.5(CERS1):c.12G>A (p.Ala4=) rs1459126597 0.00007
NM_021267.5(CERS1):c.582C>T (p.Tyr194=) rs779941388 0.00007
NM_001492.6(GDF1):c.1041G>T (p.Val347=) rs1467016544 0.00006
NM_021267.5(CERS1):c.752+9T>C rs369684023 0.00006
NM_021267.5(CERS1):c.258G>A (p.Ala86=) rs1038592004 0.00005
NM_021267.5(CERS1):c.66A>G (p.Leu22=) rs1185015299 0.00005
NM_001492.6(GDF1):c.297A>G (p.Gly99=) rs377462104 0.00004
NM_001492.6(GDF1):c.412C>A (p.Pro138Thr) rs765449212 0.00004
NM_001492.6(GDF1):c.78G>C (p.Leu26=) rs768421187 0.00004
NM_021267.5(CERS1):c.1010+19G>A rs776038644 0.00004
NM_021267.5(CERS1):c.369C>T (p.Thr123=) rs560072286 0.00004
NM_021267.5(CERS1):c.591-6C>T rs778912491 0.00004
NM_021267.5(CERS1):c.*806G>A rs1060504781 0.00003
NM_021267.5(CERS1):c.410-10C>T rs377152682 0.00003
NM_021267.5(CERS1):c.417G>A (p.Thr139=) rs372257242 0.00003
NM_021267.5(CERS1):c.590+9A>G rs200695801 0.00003
NM_021267.5(CERS1):c.768C>A (p.Leu256=) rs764610749 0.00003
NM_021267.5(CERS1):c.1010+18C>T rs759989196 0.00002
NM_021267.5(CERS1):c.18C>G (p.Pro6=) rs1008352652 0.00002
NM_021267.5(CERS1):c.294G>A (p.Lys98=) rs186889230 0.00002
NM_021267.5(CERS1):c.409+7G>T rs368913904 0.00002
NM_021267.5(CERS1):c.410-17G>T rs1050558355 0.00002
NM_001492.6(GDF1):c.1104G>A (p.Glu368=) rs1213252544 0.00001
NM_001492.6(GDF1):c.54C>T (p.Ala18=) rs1420961005 0.00001
NM_021267.5(CERS1):c.1008C>T (p.Ala336=) rs371463042 0.00001
NM_021267.5(CERS1):c.1011-4C>T rs2055951287 0.00001
NM_021267.5(CERS1):c.1032G>A (p.Leu344=) rs1015891977 0.00001
NM_021267.5(CERS1):c.180G>A (p.Leu60=) rs1231005112 0.00001
NM_021267.5(CERS1):c.252C>T (p.Pro84=) rs765754803 0.00001
NM_021267.5(CERS1):c.273C>G (p.Leu91=) rs768644742 0.00001
NM_021267.5(CERS1):c.306C>T (p.Ser102=) rs779359438 0.00001
NM_021267.5(CERS1):c.432G>A (p.Val144=) rs1243530086 0.00001
NM_021267.5(CERS1):c.477T>C (p.Tyr159=) rs1426719277 0.00001
NM_021267.5(CERS1):c.498G>A (p.Thr166=) rs777172267 0.00001
NM_021267.5(CERS1):c.522G>A (p.Lys174=) rs778674727 0.00001
NM_021267.5(CERS1):c.528G>A (p.Ser176=) rs756017318 0.00001
NM_021267.5(CERS1):c.558T>C (p.Thr186=) rs370638755 0.00001
NM_021267.5(CERS1):c.590+15G>A rs760913694 0.00001
NM_021267.5(CERS1):c.591-15C>G rs780029381 0.00001
NM_021267.5(CERS1):c.627C>T (p.His209=) rs774025010 0.00001
NM_021267.5(CERS1):c.684C>T (p.Arg228=) rs761091051 0.00001
NM_021267.5(CERS1):c.732C>T (p.Cys244=) rs774860884 0.00001
NM_021267.5(CERS1):c.780G>A (p.Pro260=) rs765999204 0.00001
NM_021267.5(CERS1):c.798C>T (p.Ala266=) rs978085666 0.00001
NM_021267.5(CERS1):c.900+8G>A rs768626142 0.00001
NM_021267.5(CERS1):c.901-4G>A rs755673028 0.00001
NM_021267.5(CERS1):c.901-6T>A rs1470403378 0.00001
NM_021267.5(CERS1):c.906C>T (p.Ile302=) rs377364343 0.00001
NM_021267.5(CERS1):c.945C>T (p.His315=) rs767643146 0.00001
NM_001492.6(GDF1):c.1035C>T (p.Ile345=)
NM_001492.6(GDF1):c.1038C>T (p.Ser346=) rs1267736842
NM_001492.6(GDF1):c.1095G>A (p.Val365=)
NM_001492.6(GDF1):c.171G>C (p.Pro57=)
NM_001492.6(GDF1):c.325+11C>T
NM_001492.6(GDF1):c.330G>T (p.Ala110=) rs773079354
NM_001492.6(GDF1):c.345G>A (p.Ser115=)
NM_001492.6(GDF1):c.354C>T (p.Ala118=)
NM_001492.6(GDF1):c.366G>A (p.Gly122=) rs1458924719
NM_001492.6(GDF1):c.372C>T (p.Cys124=)
NM_001492.6(GDF1):c.549C>T (p.Leu183=) rs966648207
NM_001492.6(GDF1):c.561G>A (p.Val187=)
NM_001492.6(GDF1):c.582G>A (p.Val194=) rs1467691365
NM_001492.6(GDF1):c.69G>T (p.Ser23=)
NM_001492.6(GDF1):c.738C>T (p.His246=)
NM_001492.6(GDF1):c.741C>T (p.Pro247=) rs2055907615
NM_001492.6(GDF1):c.834G>A (p.Glu278=)
NM_001492.6(GDF1):c.849C>G (p.Arg283=)
NM_001492.6(GDF1):c.864G>A (p.Pro288=)
NM_001492.6(GDF1):c.903G>A (p.Ala301=) rs2145984931
NM_001492.6(GDF1):c.927C>T (p.Ser309=)
NM_001492.6(GDF1):c.987G>A (p.Pro329=)
NM_021267.5(CERS1):c.*1298G>A rs748808313
NM_021267.5(CERS1):c.*389C>T rs1555702693
NM_021267.5(CERS1):c.*422T>G rs1060504782
NM_021267.5(CERS1):c.*773G>A rs1415775845
NM_021267.5(CERS1):c.1011-16C>T rs2145990522
NM_021267.5(CERS1):c.1011-4C>G
NM_021267.5(CERS1):c.1011-5C>T
NM_021267.5(CERS1):c.1011-8del rs1421634945
NM_021267.5(CERS1):c.102G>C (p.Ala34=)
NM_021267.5(CERS1):c.1035G>A (p.Val345=) rs749025315
NM_021267.5(CERS1):c.123C>G (p.Gly41=) rs2146084585
NM_021267.5(CERS1):c.156C>T (p.His52=) rs2146084390
NM_021267.5(CERS1):c.15G>T (p.Gly5=)
NM_021267.5(CERS1):c.171G>T (p.Pro57=) rs1165273715
NM_021267.5(CERS1):c.192G>T (p.Ala64=)
NM_021267.5(CERS1):c.195C>T (p.Leu65=)
NM_021267.5(CERS1):c.198C>G (p.Gly66=)
NM_021267.5(CERS1):c.222C>G (p.Arg74=) rs1601197228
NM_021267.5(CERS1):c.234T>A (p.Thr78=)
NM_021267.5(CERS1):c.249+14G>T
NM_021267.5(CERS1):c.249+19C>T
NM_021267.5(CERS1):c.249+7G>A
NM_021267.5(CERS1):c.250-15T>C
NM_021267.5(CERS1):c.250-20G>T
NM_021267.5(CERS1):c.250-4A>G
NM_021267.5(CERS1):c.264G>C (p.Arg88=) rs377215717
NM_021267.5(CERS1):c.288C>T (p.Ala96=)
NM_021267.5(CERS1):c.375C>T (p.Tyr125=)
NM_021267.5(CERS1):c.387T>C (p.His129=) rs2146074202
NM_021267.5(CERS1):c.39C>G (p.Pro13=)
NM_021267.5(CERS1):c.402C>A (p.Val134=) rs1203214467
NM_021267.5(CERS1):c.402C>T (p.Val134=)
NM_021267.5(CERS1):c.410-20_410-19del rs753725560
NM_021267.5(CERS1):c.420G>A (p.Pro140=)
NM_021267.5(CERS1):c.420G>C (p.Pro140=) rs777354771
NM_021267.5(CERS1):c.429A>C (p.Ala143=) rs200107216
NM_021267.5(CERS1):c.45C>T (p.Pro15=) rs2146085011
NM_021267.5(CERS1):c.531G>A (p.Val177=) rs542208205
NM_021267.5(CERS1):c.534C>G (p.Val178=) rs1601172670
NM_021267.5(CERS1):c.540G>T (p.Leu180=) rs763116442
NM_021267.5(CERS1):c.567C>T (p.Leu189=) rs2146032932
NM_021267.5(CERS1):c.570C>T (p.Ile190=) rs778764321
NM_021267.5(CERS1):c.579C>T (p.Ser193=)
NM_021267.5(CERS1):c.590+11G>C
NM_021267.5(CERS1):c.590+14C>G
NM_021267.5(CERS1):c.591-10G>T
NM_021267.5(CERS1):c.591-15C>T rs780029381
NM_021267.5(CERS1):c.591-8T>A
NM_021267.5(CERS1):c.594C>T (p.Tyr198=)
NM_021267.5(CERS1):c.630T>C (p.Asp210=)
NM_021267.5(CERS1):c.66A>C (p.Leu22=) rs1185015299
NM_021267.5(CERS1):c.702G>A (p.Arg234=) rs2146018471
NM_021267.5(CERS1):c.717A>G (p.Ala239=) rs2056171735
NM_021267.5(CERS1):c.750C>T (p.Ser250=) rs2146018260
NM_021267.5(CERS1):c.753-17G>A
NM_021267.5(CERS1):c.753-18T>G
NM_021267.5(CERS1):c.753-4G>A
NM_021267.5(CERS1):c.780G>T (p.Pro260=) rs765999204
NM_021267.5(CERS1):c.78C>T (p.Gly26=)
NM_021267.5(CERS1):c.790C>T (p.Leu264=) rs2146013191
NM_021267.5(CERS1):c.816G>A (p.Leu272=) rs2146013036
NM_021267.5(CERS1):c.834C>T (p.Ile278=) rs781327266
NM_021267.5(CERS1):c.840C>T (p.Phe280=)
NM_021267.5(CERS1):c.846C>T (p.Phe282=)
NM_021267.5(CERS1):c.873C>G (p.Leu291=) rs750237588
NM_021267.5(CERS1):c.876C>G (p.Thr292=) rs1047604923
NM_021267.5(CERS1):c.900+11C>T
NM_021267.5(CERS1):c.900+13C>T
NM_021267.5(CERS1):c.900+14G>A
NM_021267.5(CERS1):c.900+20C>T rs1296690347
NM_021267.5(CERS1):c.900+7C>T
NM_021267.5(CERS1):c.901-17C>G
NM_021267.5(CERS1):c.901-8T>C
NM_021267.5(CERS1):c.951G>A (p.Leu317=)
NM_021267.5(CERS1):c.958C>T (p.Leu320=) rs1260273077
NM_021267.5(CERS1):c.978C>A (p.Ala326=) rs530273200
NM_021267.5(CERS1):c.978C>T (p.Ala326=)
NM_021267.5(CERS1):c.984C>G (p.Ala328=)
NM_021267.5(CERS1):c.990C>T (p.Ser330=) rs865981359
NM_021267.5(CERS1):c.996G>A (p.Lys332=)
NM_021267.5(CERS1):c.999C>T (p.Pro333=) rs2146010687
NM_021267.5(CERS1):c.9G>A (p.Ala3=) rs1310539014

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.